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RUNX2 c.169C>T ;(p.Q57*)
Variant ID: 6-45390440-C-T
NM_001024630.3(
RUNX2
):c.169C>T;(p.Q57*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08
Variant appearance in text: CBFA1: 169C>T
PubMed Link:
30095610
Variant Present in the following documents:
View BVdb publication page
Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.
Molecular Syndromology
Singh, Ankur A; Goswami, Mridula M; Pradhan, Gaurav G; Han, Min-Su MS; Choi, Je-Yong JY; Kapoor, Seema S
Publication Date: 2015-07
Variant appearance in text: CCD: 169C>T
PubMed Link:
26279653
Variant Present in the following documents:
Main text
View BVdb publication page